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Limb disorders

Gene: PNPLA6

Red List (low evidence)

PNPLA6 (patatin like phospholipase domain containing 6)
EnsemblGeneIds (GRCh38): ENSG00000032444
EnsemblGeneIds (GRCh37): ENSG00000032444
OMIM: 603197, Gene2Phenotype
PNPLA6 is in 13 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Comment when marking as ready: No evidence that this gene is associated with limb disorders.
Created: 29 Nov 2018, 1:23 p.m.
Checked with VCGS. They were not sure why this gene had been included in their list of polydactyly genes. So keep red rating.
Created: 29 Nov 2018, 1:22 p.m.

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

No apparent association with Limb disorders in OMIM, G2P or in the literature. Contact VCGS for evidence the presence of this gene on the panel.
Created: 7 Nov 2018, 1:26 p.m.

Mode of inheritance
Unknown

History Filter Activity

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Sarah Leigh: No apparent association with L

29 Nov 2018, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: pnpla6 has been classified as Red List (Low Evidence).

7 Nov 2018, Gel status: 1

Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Source Expert Review Red was added to PNPLA6. Mode of inheritance for gene PNPLA6 was changed from to Unknown

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PNPLA6 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

PNPLA6 was created by Ellen McDonagh